Charcot-Marie-Tooth disease type 1F
MeSH: C537987ORPHA: 101085
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Charcot-Marie-Tooth disease type 1F, sourced from HPO and Orphanet clinical annotations.
Decreased nerve conduction velocityDistal muscle weaknessSkeletal muscle atrophySomatic sensory dysfunctionSensorimotor neuropathyDemyelinating motor neuropathyDemyelinating sensory neuropathyAbnormality of the handMotor delayAreflexiaPes cavusGait ataxiaLimb ataxiaUnsteady gaitHead tremorHand tremorPositive Romberg signImpaired vibratory sensationSteppage gaitDecreased number of large peripheral myelinated nerve fibersAbsent brainstem auditory responsesDistal upper limb amyotrophyMixed demyelinating and axonal polyneuropathyImpaired pain sensationDistal lower limb amyotrophyFoot dorsiflexor weaknessDistal lower limb muscle weaknessHand muscle atrophyImpaired proprioceptionCervical spinal cord atrophyHand muscle weaknessUrinary incontinenceSensorineural hearing impairmentOptic nerve hypoplasiaHypotoniaDysarthriaFasciculationsScoliosisMuscle spasmParesthesiaScapular wingingProximal lower limb amyotrophyProximal lower limb muscle weaknessProximal upper limb muscle weaknessRestless legsTongue atrophyFlexion contracture of fingerWeakness of facial musculatureCognitive impairmentInability to walk
Classification & Codes
MeSH Code
C537987Orphanet Code
ORPHA:101085Charcot-Marie-Tooth disease type 1F
| MeSH | C537987 |
| Orphanet | ORPHA:101085 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO